Hemangioblastoma

A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma

X. M. Fu, Zhao, S. L., Gui, J. C., Jiang, Y. Q., Shen, M. N., Su, D. L., Gu, B. J., Wang, X. Q., Ren, Q. J., Yin, X. D., Huang, W. B., and Chen, X. G., A novel mutation links to von Hippel-Lindau syndrome in a Chinese family with hemangioblastoma, vol. 14, pp. 4513-4520, 2015.

Hemangioblastoma of the central nervous system occurs as sporadic tumors or as a part of von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary tumor syndrome caused by a germline mutation in the VHL tumor suppressor gene. We screened a Chinese family with VHL for mutations in the VHL gene and evaluated a genetic test for diagnosing VHL disease and clinical screening of family members.

Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome

L. H. Cao, Kuang, B. H., Chen, C., Hu, C., Sun, Z., Chen, H., Wang, S. S., and Luo, Y., Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome, vol. 13, pp. 10177-10183, 2014.

Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina, renal cysts, clear cell renal cell carcinoma, and pheochromocytoma. VHL is caused by mutations in the VHL tumor suppressor gene. We attempted to detect mutation in the VHL gene in a 5-generation Chinese family with VHL. We identified a novel small duplication that altered the reading frame downstream and created a premature TGA stop signal, resulting in severely truncated pVHL30 (p.Gly114Serfs*50) and pVHL19 (p.Gly61Serfs*50).

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